Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01730:Klhl17'

105447

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Klhl17

Ensembl Gene

ENSMUSG00000078484

Gene Name

kelch-like 17

Synonyms

actinfilin

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.180) question?

Stock #

IGL01730

Quality Score

Status

Chromosome

Chromosomal Location

156313792-156319314 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 156316157 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Stop codon at position 399 (S399*)

Ref Sequence

ENSEMBL: ENSMUSP00000101194 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105569] [ENSMUST00000105571] [ENSMUST00000179543] [ENSMUST00000179886] [ENSMUST00000217885] [ENSMUST00000218699]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000105569
AA Change: S399*

SMART Domains

Protein: ENSMUSP00000101194
Gene: ENSMUSG00000078485
AA Change: S399*

Domain	Start	End	E-Value	Type
low complexity region	20	50	N/A	INTRINSIC
BTB	90	187	3.55e-30	SMART
BACK	192	294	1.08e-42	SMART
Kelch	341	387	4.01e-8	SMART
Kelch	388	434	5.41e-14	SMART
Kelch	435	481	6.97e-17	SMART
Kelch	482	528	1.55e-14	SMART
Kelch	529	575	2.02e-13	SMART
Kelch	576	622	1.34e-9	SMART
low complexity region	626	640	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105571

SMART Domains

Protein: ENSMUSP00000101196
Gene: ENSMUSG00000078485

Domain	Start	End	E-Value	Type
PH	96	192	4.6e-4	SMART
PH	227	324	8.34e-2	SMART
low complexity region	346	359	N/A	INTRINSIC
low complexity region	403	414	N/A	INTRINSIC
low complexity region	499	527	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000179543

SMART Domains

Protein: ENSMUSP00000137253
Gene: ENSMUSG00000095567

Domain	Start	End	E-Value	Type
low complexity region	21	58	N/A	INTRINSIC
low complexity region	97	114	N/A	INTRINSIC
low complexity region	121	139	N/A	INTRINSIC
Pfam:Noc2	331	626	1.8e-128	PFAM
low complexity region	651	675	N/A	INTRINSIC
low complexity region	701	723	N/A	INTRINSIC
low complexity region	738	750	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000179886

SMART Domains

Protein: ENSMUSP00000137183
Gene: ENSMUSG00000095567

Domain	Start	End	E-Value	Type
Pfam:Noc2	172	470	1.2e-117	PFAM
low complexity region	494	518	N/A	INTRINSIC
low complexity region	544	566	N/A	INTRINSIC
low complexity region	581	593	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184043

Predicted Effect

probably benign
Transcript: ENSMUST00000217885

Predicted Effect

probably benign
Transcript: ENSMUST00000218699

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219227

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is expressed in neurons of most regions of the brain. It contains an N-terminal BTB domain, which mediates dimerization of the protein, and a C-terminal Kelch domain, which mediates binding to F-actin. This protein may play a key role in the regulation of actin-based neuronal function. [provided by RefSeq, Aug 2010]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afap1	A	G	5: 36,119,583 (GRCm39)	E287G	probably damaging	Het
Bhmt	A	T	13: 93,761,917 (GRCm39)	V122E	probably damaging	Het
Camta1	A	G	4: 151,147,302 (GRCm39)	I585T	probably damaging	Het
Cfap221	A	G	1: 119,861,841 (GRCm39)	S645P	probably benign	Het
Derl1	A	T	15: 57,755,543 (GRCm39)	F50Y	possibly damaging	Het
Dhrs3	T	C	4: 144,646,042 (GRCm39)	S117P	probably damaging	Het
E2f8	A	T	7: 48,527,682 (GRCm39)		probably benign	Het
Fbn1	A	T	2: 125,154,894 (GRCm39)		probably benign	Het
Fbxo15	A	G	18: 84,982,299 (GRCm39)	I250M	probably benign	Het
Ghr	A	T	15: 3,350,066 (GRCm39)	S371T	probably damaging	Het
Gm5884	A	T	6: 128,622,669 (GRCm39)		noncoding transcript	Het
Grhl2	T	C	15: 37,338,018 (GRCm39)	V496A	probably benign	Het
Gsap	A	G	5: 21,495,152 (GRCm39)		probably benign	Het
Irak3	T	C	10: 120,014,005 (GRCm39)	D148G	probably benign	Het
Itga2	A	T	13: 114,990,947 (GRCm39)		probably benign	Het
Kif13b	T	C	14: 64,987,810 (GRCm39)		probably null	Het
Kif20b	A	T	19: 34,927,923 (GRCm39)	K1022*	probably null	Het
Lcp2	A	T	11: 34,000,943 (GRCm39)	D42V	possibly damaging	Het
Lin7c	G	T	2: 109,726,785 (GRCm39)	G145*	probably null	Het
Lrba	A	G	3: 86,648,731 (GRCm39)	D2493G	possibly damaging	Het
Mobp	A	G	9: 119,996,992 (GRCm39)	D41G	probably damaging	Het
Mycbp2	G	A	14: 103,372,640 (GRCm39)	Q785*	probably null	Het
Myl6b	T	C	10: 128,332,211 (GRCm39)	Y85C	possibly damaging	Het
Nup133	G	T	8: 124,664,972 (GRCm39)	H240N	probably benign	Het
Or5b12	A	C	19: 12,896,926 (GRCm39)	F249C	probably damaging	Het
Plk4	T	C	3: 40,760,285 (GRCm39)	S394P	probably benign	Het
Prepl	A	G	17: 85,388,603 (GRCm39)	Y167H	possibly damaging	Het
Prkab1	A	G	5: 116,159,551 (GRCm39)	L105P	probably damaging	Het
Ryr2	T	A	13: 11,616,728 (GRCm39)	I3897L	possibly damaging	Het
Sema3c	A	G	5: 17,916,434 (GRCm39)	S469G	probably benign	Het
Serpinb3c	T	A	1: 107,200,914 (GRCm39)	S168C	probably damaging	Het
Snapc4	A	T	2: 26,253,736 (GRCm39)		probably null	Het
Sorcs2	A	T	5: 36,205,153 (GRCm39)	M528K	probably damaging	Het
Spink10	T	A	18: 62,784,816 (GRCm39)		probably null	Het
Tent5b	A	T	4: 133,213,833 (GRCm39)		probably null	Het
Thsd7a	C	A	6: 12,554,980 (GRCm39)	Q301H	probably benign	Het
Tmem135	A	T	7: 88,797,252 (GRCm39)	F335I	possibly damaging	Het
Tshr	A	T	12: 91,486,077 (GRCm39)	D217V	possibly damaging	Het
Ttyh1	G	A	7: 4,128,720 (GRCm39)	V206M	possibly damaging	Het
Tusc3	T	G	8: 39,617,880 (GRCm39)	*348G	probably null	Het
Vmn2r76	G	A	7: 85,879,406 (GRCm39)	T298I	probably benign	Het
Wdr47	T	C	3: 108,518,712 (GRCm39)	F67L	probably damaging	Het

Other mutations in Klhl17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Klhl17	APN	4	156,318,147 (GRCm39)	missense	possibly damaging	0.66
IGL00235:Klhl17	APN	4	156,318,319 (GRCm39)	missense	possibly damaging	0.89
IGL02810:Klhl17	APN	4	156,318,514 (GRCm39)	missense	possibly damaging	0.72
R0761:Klhl17	UTSW	4	156,317,204 (GRCm39)	critical splice acceptor site	probably null
R1299:Klhl17	UTSW	4	156,315,419 (GRCm39)	missense	probably damaging	1.00
R4847:Klhl17	UTSW	4	156,316,054 (GRCm39)	missense	probably damaging	0.96
R4888:Klhl17	UTSW	4	156,315,082 (GRCm39)	missense	probably benign	0.05
R4919:Klhl17	UTSW	4	156,318,344 (GRCm39)	missense	possibly damaging	0.60
R5121:Klhl17	UTSW	4	156,315,082 (GRCm39)	missense	probably benign	0.05
R8215:Klhl17	UTSW	4	156,314,510 (GRCm39)	missense	unknown
R8314:Klhl17	UTSW	4	156,318,470 (GRCm39)	missense	probably benign	0.21

Posted On

2014-01-21